Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999959398 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:59113430G>AN/A show variant in all transcripts   IGV
HGNC symbol DACT1
Ensembl transcript ID ENST00000335867
Genbank transcript ID NM_016651
UniProt peptide Q9NYF0
alteration type single base exchange
alteration region CDS
DNA changes c.2089G>A
cDNA.2113G>A
g.12746G>A
AA changes G697S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 697
frameshift no
known variant Reference ID: rs698025
databasehomozygous (A/A)heterozygousallele carriers
1000G2149251139
ExAC34701991323383
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H2AZ, Histone, Histone 2A variant Z
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1540.102
0.4980.004
(flanking)-0.1960
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased12751wt: 0.50 / mu: 0.56wt: GGTCGCCGGGAGAAT
mu: AGTCGCCGGGAGAAT		 TCGC|cggg
Donor gained127410.88mu: GGCCCGGCGCAGTCG CCCG|gcgc
distance from splice site 459
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      697SYEEALRRARRGRRENVGLYPAPV
mutated  not conserved    697SYEEALRRARRSRRENVGLYPAP
Ptroglodytes  all identical  ENSPTRG00000006397  697SYEEALRRARRGRRENVGLYPAP
Mmulatta  all identical  ENSMMUG00000001090  698SYEEALRRARRGRRENVGLYPAP
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000044548  676SYEEALRRARRARREHGAAYRVA
Ggallus  not conserved  ENSGALG00000012023  684SYEEALRRARRNRRDGVGVY-AQ
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000039675  684PYEEAYRRAHRRQKREMLSHMYLP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000011962  686SYEEALRRARRRAQREMMGVY-AQ
protein features
start (aa)end (aa)featuredetails 
826836MOTIFPDZ-binding (By similarity).might get lost (downstream of altered splice site)
827827MOD_RESPhosphoserine; by PKA.might get lost (downstream of altered splice site)
827827MUTAGENS->A: Abolishes interaction with YWHAB; when associated with A-237.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2511 / 2511
position (AA) of stopcodon in wt / mu AA sequence 837 / 837
position of stopcodon in wt / mu cDNA 2535 / 2535
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 25 / 25
chromosome 14
strand 1
last intron/exon boundary 659
theoretical NMD boundary in CDS 584
length of CDS 2511
coding sequence (CDS) position 2089
cDNA position
(for ins/del: last normal base / first normal base)		 2113
gDNA position
(for ins/del: last normal base / first normal base)		 12746
chromosomal position
(for ins/del: last normal base / first normal base)		 59113430
original gDNA sequence snippet CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG
altered gDNA sequence snippet CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG
original cDNA sequence snippet CCCTGAGGAGGGCCCGGCGCGGTCGCCGGGAGAATGTGGGG
altered cDNA sequence snippet CCCTGAGGAGGGCCCGGCGCAGTCGCCGGGAGAATGTGGGG
wildtype AA sequence MKPSPAGTAK ELEPPAPARG EQRTAEPEGR WREKGEADTE RQRTRERQEA TLAGLAELEY
LRQRQELLVR GALRGAGGAG AAAPRAGELL GEAAQRSRLE EKFLEENILL LRKQLNCLRR
RDAGLLNQLQ ELDKQISDLR LDVEKTSEEH LETDSRPSSG FYELSDGASG SLSNSSNSVF
SECLSSCHSS TCFCSPLEAT LSLSDGCPKS ADLIGLLEYK EGHCEDQASG AVCRSLSTPQ
FNSLDVIADV NPKYQCDLVS KNGNDVYRYP SPLHAVAVQS PMFLLCLTGN PLREEDRLGN
HASDICGGSE LDAVKTDSSL PSPSSLWSAS HPSSSKKMDG YILSLVQKKT HPVRTNKPRT
SVNADPTKGL LRNGSVCVRA PGGVSQGNSV NLKNSKQACL PSGGIPSLNN GTFSPPKQWS
KESKAEQAES KRVPLPEGCP SGAASDLQSK HLPKTAKPAS QEHARCSAIG TGESPKESAQ
LSGASPKESP SRGPAPPQEN KVVQPLKKMS QKNSLQGVPP ATPPLLSTAF PVEERPALDF
KSEGSSQSLE EAHLVKAQFI PGQQPSVRLH RGHRNMGVVK NSSLKHRGPA LQGLENGLPT
VREKTRAGSK KCRFPDDLDT NKKLKKASSK GRKSGGGPEA GVPGRPAGGG HRAGSRAHGH
GREAVVAKPK HKRTDYRRWK SSAEISYEEA LRRARRGRRE NVGLYPAPVP LPYASPYAYV
ASDSEYSAEC ESLFHSTVVD TSEDEQSNYT TNCFGDSESS VSEGEFVGES TTTSDSEESG
GLIWSQFVQT LPIQTVTAPD LHNHPAKTFV KIKASHNLKK KILRFRSGSL KLMTTV*
mutated AA sequence MKPSPAGTAK ELEPPAPARG EQRTAEPEGR WREKGEADTE RQRTRERQEA TLAGLAELEY
LRQRQELLVR GALRGAGGAG AAAPRAGELL GEAAQRSRLE EKFLEENILL LRKQLNCLRR
RDAGLLNQLQ ELDKQISDLR LDVEKTSEEH LETDSRPSSG FYELSDGASG SLSNSSNSVF
SECLSSCHSS TCFCSPLEAT LSLSDGCPKS ADLIGLLEYK EGHCEDQASG AVCRSLSTPQ
FNSLDVIADV NPKYQCDLVS KNGNDVYRYP SPLHAVAVQS PMFLLCLTGN PLREEDRLGN
HASDICGGSE LDAVKTDSSL PSPSSLWSAS HPSSSKKMDG YILSLVQKKT HPVRTNKPRT
SVNADPTKGL LRNGSVCVRA PGGVSQGNSV NLKNSKQACL PSGGIPSLNN GTFSPPKQWS
KESKAEQAES KRVPLPEGCP SGAASDLQSK HLPKTAKPAS QEHARCSAIG TGESPKESAQ
LSGASPKESP SRGPAPPQEN KVVQPLKKMS QKNSLQGVPP ATPPLLSTAF PVEERPALDF
KSEGSSQSLE EAHLVKAQFI PGQQPSVRLH RGHRNMGVVK NSSLKHRGPA LQGLENGLPT
VREKTRAGSK KCRFPDDLDT NKKLKKASSK GRKSGGGPEA GVPGRPAGGG HRAGSRAHGH
GREAVVAKPK HKRTDYRRWK SSAEISYEEA LRRARRSRRE NVGLYPAPVP LPYASPYAYV
ASDSEYSAEC ESLFHSTVVD TSEDEQSNYT TNCFGDSESS VSEGEFVGES TTTSDSEESG
GLIWSQFVQT LPIQTVTAPD LHNHPAKTFV KIKASHNLKK KILRFRSGSL KLMTTV*
speed 0.52 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project